Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1
Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.
Fang Y et al.
Clinical Genetics, 2025
Three patients with new mutations in the EPCAM variant gene for congenital tufting enteropathy and a mutation review in China: a case report.
Wang SN et al.
Translational Pediatrics, 2024
Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.
Zhan Q et al.
Ebiomedicine, 2021
34839264 (PubMed )
Supplement: mmc5.xlsx › Sheet1
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Pathak SJ et al.
Human Mutation, 2019
Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.
Tang W et al.
Journal of Clinical Gastroenterology, 2018
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J et al.
Human Genetics, 2014
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